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  • 1
    Electronic Resource
    Electronic Resource
    Clear cell melanoma of the skin with regressive changes (1991)
    Oxford, UK : Blackwell Publishing Ltd
    Histopathology 18 (1991), S. 0 
    Details
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2559.1991.tb00841.x
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  • 2
    Electronic Resource
    Electronic Resource
    Chromatography and spectrofluorometry of brain fluorophores in neuronal ceroid lipofuscinosis (NCL)
    Amsterdam : Elsevier
    Mechanisms of Ageing and Development 64 (1992), S. 293-302 
    Details
    ISSN: 0047-6374
    Keywords: Brain fluorophores ; Chromatography ; Neuronal aeroid lipofuscinosis ; Spectrofluorometry
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0047-6374(92)90085-R
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  • 3
    Electronic Resource
    Electronic Resource
    Niemann-Pick disease (1980)
    Springer
    Virchows Archiv 385 (1980), S. 215-231 
    Details
    ISSN: 1432-2307
    Keywords: Sphingomyelinase deficit ; Niemann-Pick disease ; Liver ; Histochemistry ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The results of a complex analysis of liver tissue are presented (four biopsy and two autopsy samples) obtained from six patients with Niemann-Pick disease (NPD) with a gross deficiency of sphingomyelinase (SMase) accompanied by a typical increase in sphingomyelin (SM). There were five cases of NPD type A (four of them with an atypical, prolonged course) and one case of type B. By means of lipid histochemistry it was possible to demonstrate SM storage both in hepatocytes and in the reticuloendothelial system (RES) of the liver (Kupffer cells and portal macrophages) and to show in two siblings with NPD type A a so-far undescribed centrilobular storage pattern. Enzyme histochemistry revealed a secondary deficit of nonspecific esterase activity and acid β-galactosidase in liver storage macrophages and varying degrees of suppression of hepatocytic enzyme activities as a reaction to lipid storage of sudden onset. Ultrastructurally, it was possible to demonstrate cholesterol in lysosomes by using digitonin fixation, the involvement of Ito cells in lipid storage, the aggregation of storage lysosomes with certain other organelles and their occasional connections with the endoplasmic reticulum. The problems of possible lipid extraction during processing were considered as a cause of pronounced lysosomal electron-lucidity and of the ultrastructural identification of the participating lipopigment. The significance of the findings is discussed in relation to the existing classification and, particularly, to the stored lipid dilemma of cases of NPD type C.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00427406
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  • 4
    Electronic Resource
    Electronic Resource
    Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase (1993)
    Springer
    Virchows Archiv 423 (1993), S. 303-307 
    Details
    ISSN: 1432-2307
    Keywords: Phosphorylase b kinase deficiency ; Glycogen storage disease ; Hypertrophic cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01606895
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  • 5
    Electronic Resource
    Electronic Resource
    Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C (1983)
    Springer
    Virchows Archiv 401 (1983), S. 35-43 
    Details
    ISSN: 1432-2307
    Keywords: Niemann-Pick disease type C ; Adult lipidosis ; Sphingomyelinosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The authors present a case of neurovisceral storage disease with the whole of its clinical course confined to adult life (symptoms from 26 to 46 years of age) and marked by mainly neurological symptomatology with dystonia, vertical supranuclear ophthalmoplegia and progressive mental deterioration as the dominant features. From the results of postmortem structural histochemical and chemical analysis the case was diagnosed as Niemann-Pick disease type C. This case, together with sporadic observations reported by other authors, represents a significant shift in our view of the incidence of NPD type C in older age groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00644787
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  • 6
    Electronic Resource
    Electronic Resource
    Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood (1990)
    Springer
    Virchows Archiv 416 (1990), S. 357-365 
    Details
    ISSN: 1432-2307
    Keywords: Acid lipase deficiency ; Adult variant ; Hepatocytic lipofuscin ; Ceroid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An extremely benign variant of cholesterol ester storage disease (CESD) was diagnosed in two female patients aged 43 and 56 years. In one of them the course was entirely subclinical until a stroke at the age of 47, most probably a complication of secondary hyperlipoproteinaemia. The diagnosis was made accidentally in vivo during extensive examination for concomitant monoclonal gammapathy. The other patient (aged 56), still displays a fairly stable course with minor dyspeptic symptoms. The clinical findings in both patients were confined to moderate well tolerated hepatomegaly, hyperlipoproteinaemia of IIb type and xanthelasmata. Acid lipase activity was markedly deficient in peripheral leukocytes and cultured fibroblasts. These cases represent a rare adult variant the existence of which should be borne in mind in the differential diagnosis of chronic liver disease in advanced age and of hyperlipoporteinaemic states. The diagnostic criteria for the routine clinicopathological steps are summarized with emphasis on a special lipopigment deposition pattern, encompassing inhibition and modification of lipofuscin generation in hepatocytes and an excess of ceroid production in both portal and intralobular histiocytes. The varied ultrastructural appearance of the lysosomal limiting membrane complex is described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01605297
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  • 7
    Electronic Resource
    Electronic Resource
    An unusual case of phospholipidosis (1978)
    Springer
    Virchows Archiv 377 (1978), S. 329-338 
    Details
    ISSN: 1432-2307
    Keywords: Sphingomyelinosis ; Lysobisphosphatidic acid ; Sphingomyelinase ; Neuroaxonal dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We present the results of a structural, histochemical and lipid-chromatographic study of tissues obtained at postmortem from an unusual case of phospholipidosis. A previous biopsy of the appendix and liver (Elleder et al., 1975a) had revealed a predominance of phosphoglyceride storage, principally of lysobisphosphatidic acid (LBPA) postmortem material showed that this lipid was stored exclusively in central neurons. In the spleen and the lymph node, however, sphingomyelin (SP) was shown, histochemically and chromatographically, to be the main lipid stored. Total sphingomyelinase (SPase) activity in the appendix was reduced to about 50% of normal. Neuroaxonal dystrophy (NAD) and a conspicuous discrepancy between the degree of distension of some neurons and their lipid content deserve special mention. The case is contrasted with classical sphingomyelinosis; the complexity of the Niemann-Pick group of diseases is discussed as an indication of the difficulties of classification of any atypical case.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00507133
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  • 8
    Electronic Resource
    Electronic Resource
    Mucolipidosis type II with evidence of a novel storage site (1998)
    Springer
    Virchows Archiv 433 (1998), S. 575-578 
    Details
    ISSN: 1432-2307
    Keywords: Key words Mucolipidosis II ; I-cell disease ; Lysosomal storage ; Serous secretory cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  In a case of infantile mucolipidosis type II (I-cell disease), storage was identified at autopsy in serous-type secretory cells in exocrine pancreas, in the tracheal and sublingual salivary glands and in the chief (zymogenic) cells of the gastric oxyntic glands, suggesting a systemic involvement of this type of secretory cells. The content of specific secretory granules was inversely proportional to the intensity of the storage process. The mucus-producing cells were not affected. The serous glandular system is a novel storage site in I-cell disease. Review of archival material in three further cases confirmed the findings.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004280050292
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  • 9
    Electronic Resource
    Electronic Resource
    A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency (1996)
    Springer
    Virchows Archiv 429 (1996), S. 305-309 
    Details
    ISSN: 1432-2307
    Keywords: Gaucher disease ; Amyloidosis ; Chitotriosidase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were dominated by extensive pulmonary and cardiac amyloid infiltration. No Gaucher cells were found in the lungs. Aside from a glucocerebrosidase deficiency the patient was also deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum of Gaucher patients. Analysis of mutations in the glucocerebrosidase gene revealed heterozygosity for N370S and D409H mutations. The normal amount of glucocerebrosidase was found in the spleen by Western blotting. We suggest that amyloidosis should be considered in the differential diagnosis of severe cardiopulmonary disease in Gaucher patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00198347
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  • 10
    Electronic Resource
    Electronic Resource
    Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease (1990)
    Springer
    Virchows Archiv 417 (1990), S. 449-455 
    Details
    ISSN: 1432-2307
    Keywords: Fabry's disease ; Cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Alpha — galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01606034
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